Maria Cortes-Fenollar

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 11 publications

RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.

RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 23, 2026

Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.

Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 05, 2026

Comprehensive neuropsychological assessment and FDG-PET imaging in patients with RFC1-related disorder.

Comprehensive neuropsychological assessment and FDG-PET imaging in patients with RFC1-related disorder.

Journal: Parkinsonism & related disorders

Published: February 10, 2026

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Journal: Journal of neurology

Published: January 18, 2026

Expanding the Phenotypic Variability of PMPCA-Related Ataxia.

Expanding the Phenotypic Variability of PMPCA-Related Ataxia.

Journal: Movement disorders clinical practice

Published: December 24, 2023

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Journal: Neurologia

Published: September 12, 2023

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Journal: Genes

Published: July 30, 2021

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Journal: Nature genetics

Published: March 17, 2021

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Journal: Journal of bone and mineral metabolism

Published: January 27, 2015

Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: October 16, 2014

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.

Journal: American journal of medical genetics. Part A

Published: August 26, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026